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Gene: LOC126862088 (BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283) Homo sapiens

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Symbol:

LOC126862088

Name:

BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283

RGD ID:

155228041

Description:

This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]

Type:

biological-region

RefSeq Status:

REVIEWED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	31,025,881 - 31,027,080 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	15	31,318,084 - 31,319,283 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	15	28,819,974 - 28,821,173 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC126862088	Human	autistic disorder		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	chromosome 15q13.3 microdeletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome	ClinVar	PMID:31690835
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Congenital stationary night blindness 1C	ClinVar	PMID:25741868
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: TRPM1-related condition	ClinVar	PMID:17576681 more ...
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:28492532
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Congenital stationary night blindness 1C	ClinVar	PMID:25741868 and PMID:28492532
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital stationary night blindness 1C	ClinVar	PMID:19896113 and PMID:28492532
LOC126862088	Human	congenital stationary night blindness 1C		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital stationary night blindness 1C	ClinVar
LOC126862088	Human	fundus dystrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:25741868 and PMID:28492532
LOC126862088	Human	fundus dystrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:25741868
LOC126862088	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
LOC126862088	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
LOC126862088	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
LOC126862088	Human	schizophrenia		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC126862088	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	Retinal dystrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:25741868
LOC126862088	Human	Retinal dystrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retinal dystrophy	ClinVar	PMID:25741868 and PMID:28492532
LOC126862088	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
LOC126862088	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

PMID:35650434

Variants in LOC126862088
83 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001252024.2(TRPM1):c.3629+4C>T	single nucleotide variant	not provided [RCV001927638]	Chr15:31026135 [GRCh38] Chr15:31318338 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	copy number gain	See cases [RCV000051112]	Chr15:23319714..32607357 [GRCh38] Chr15:22698522..32899558 [GRCh37] Chr15:20249886..30686850 [NCBI36] Chr15:15q11.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	copy number gain	See cases [RCV000148179]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	copy number gain	See cases [RCV000148165]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	copy number gain	See cases [RCV000051332]	Chr15:28918473..32606466 [GRCh38] Chr15:29210676..32898667 [GRCh37] Chr15:26997968..30685959 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3	copy number gain	See cases [RCV000051334]	Chr15:30109224..32149250 [GRCh38] Chr15:30401427..32441451 [GRCh37] Chr15:28188719..30228743 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	copy number loss	See cases [RCV000051585]	Chr15:30361674..32630901 [GRCh38] Chr15:30653877..32923102 [GRCh37] Chr15:28441169..30710394 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3497-93G>A	single nucleotide variant	not provided [RCV001534804]	Chr15:31026364 [GRCh38] Chr15:31318567 [GRCh37] Chr15:15q13.3	benign
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3	copy number gain	See cases [RCV000051336]	Chr15:30361674..32343758 [GRCh38] Chr15:30653877..32635959 [GRCh37] Chr15:28441169..30423251 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=)	single nucleotide variant	Congenital stationary night blindness 1C [RCV001118465]\|not provided [RCV001514860]\|not specified [RCV001701286]	Chr15:31026967 [GRCh38] Chr15:31319170 [GRCh37] Chr15:15q13.3	benign
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	copy number gain	See cases [RCV000148196]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)	single nucleotide variant	Congenital stationary night blindness 1C [RCV001115312]\|not provided [RCV001523169]	Chr15:31026205 [GRCh38] Chr15:31318408 [GRCh37] Chr15:15q13.3	benign\|uncertain significance
NM_001252024.2(TRPM1):c.3399G>C (p.Met1133Ile)	single nucleotide variant	Retinal dystrophy [RCV004815898]	Chr15:31027012 [GRCh38] Chr15:31319215 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3608G>C (p.Arg1203Pro)	single nucleotide variant	not provided [RCV002295870]	Chr15:31026160 [GRCh38] Chr15:31318363 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3365C>G (p.Thr1122Arg)	single nucleotide variant	not provided [RCV001937651]	Chr15:31027046 [GRCh38] Chr15:31319249 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3	copy number gain	See cases [RCV000051351]	Chr15:30640878..32222779 [GRCh38] Chr15:30933081..32514980 [GRCh37] Chr15:28720373..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
NM_001252024.2(TRPM1):c.3395C>G (p.Pro1132Arg)	single nucleotide variant	Inborn genetic diseases [RCV002569271]\|not provided [RCV001966230]	Chr15:31027016 [GRCh38] Chr15:31319219 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)	single nucleotide variant	Congenital stationary night blindness 1C [RCV001118464]\|Inborn genetic diseases [RCV004678962]\|not provided [RCV002558171]	Chr15:31026235 [GRCh38] Chr15:31318438 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3348A>G (p.Arg1116=)	single nucleotide variant	not provided [RCV001970362]	Chr15:31027063 [GRCh38] Chr15:31319266 [GRCh37] Chr15:15q13.3	likely benign\|uncertain significance
NM_001252024.2(TRPM1):c.3579G>C (p.Glu1193Asp)	single nucleotide variant	not provided [RCV001978644]	Chr15:31026189 [GRCh38] Chr15:31318392 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3590A>C (p.Gln1197Pro)	single nucleotide variant	not provided [RCV001982081]	Chr15:31026178 [GRCh38] Chr15:31318381 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3557del (p.Gln1186fs)	deletion	not provided [RCV001756652]	Chr15:31026211 [GRCh38] Chr15:31318414 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1	copy number loss	See cases [RCV000052452]	Chr15:30527262..32343758 [GRCh38] Chr15:30819465..32635959 [GRCh37] Chr15:28606757..30423251 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1	copy number loss	See cases [RCV000052455]	Chr15:30614351..32606466 [GRCh38] Chr15:30906554..32898667 [GRCh37] Chr15:28693846..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1	copy number loss	See cases [RCV000052458]	Chr15:30634533..32121422 [GRCh38] Chr15:30926736..32413623 [GRCh37] Chr15:28714028..30200915 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1	copy number loss	See cases [RCV000052465]	Chr15:30822844..32149250 [GRCh38] Chr15:31115047..32441451 [GRCh37] Chr15:28902339..30228743 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3496+6T>C	single nucleotide variant	not provided [RCV002050050]	Chr15:31026909 [GRCh38] Chr15:31319112 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3445C>T (p.Arg1149Cys)	single nucleotide variant	not provided [RCV002050684]	Chr15:31026966 [GRCh38] Chr15:31319169 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	copy number loss	See cases [RCV000052412]	Chr15:28918473..32149250 [GRCh38] Chr15:29210676..32441451 [GRCh37] Chr15:26997968..30228743 [NCBI36] Chr15:15q13.1-13.3	pathogenic
NM_001252024.2(TRPM1):c.3443G>T (p.Gly1148Val)	single nucleotide variant	not provided [RCV001240441]	Chr15:31026968 [GRCh38] Chr15:31319171 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3522A>G (p.Leu1174=)	single nucleotide variant	not provided [RCV002090206]	Chr15:31026246 [GRCh38] Chr15:31318449 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3538_3539insGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGCATGAGT (p.Phe1180Ter)	insertion	not provided [RCV002037767]	Chr15:31026229..31026230 [GRCh38] Chr15:31318432..31318433 [GRCh37] Chr15:15q13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1	copy number loss	See cases [RCV000052430]	Chr15:30361674..31317476 [GRCh38] Chr15:30653877..31609679 [GRCh37] Chr15:28441169..29396971 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3608G>A (p.Arg1203His)	single nucleotide variant	not provided [RCV002593921]	Chr15:31026160 [GRCh38] Chr15:31318363 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3546G>C (p.Glu1182Asp)	single nucleotide variant	not provided [RCV001893219]	Chr15:31026222 [GRCh38] Chr15:31318425 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3386T>G (p.Leu1129Arg)	single nucleotide variant	not provided [RCV002653466]	Chr15:31027025 [GRCh38] Chr15:31319228 [GRCh37] Chr15:15q13.3	uncertain significance
NC_000015.10:g.(?_30568981)_(32151126_?)del	deletion	Autism [RCV000754163]	Chr15:30568981..32151126 [GRCh38] Chr15:15q13.2-13.3	pathogenic
Single allele	duplication	Schizophrenia [RCV000754164]	Chr15:30568981..32151126 [GRCh38] Chr15:15q13.2-13.3	likely pathogenic
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His)	single nucleotide variant	Congenital stationary night blindness 1C [RCV000393442]\|not provided [RCV000892494]\|not specified [RCV000154020]	Chr15:31026219 [GRCh38] Chr15:31318422 [GRCh37] Chr15:15q13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001252024.2(TRPM1):c.3487C>A (p.Arg1163Ser)	single nucleotide variant	not provided [RCV001886275]	Chr15:31026924 [GRCh38] Chr15:31319127 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3516G>A (p.Glu1172=)	single nucleotide variant	not provided [RCV002155779]	Chr15:31026252 [GRCh38] Chr15:31318455 [GRCh37] Chr15:15q13.3	likely benign
Single allele	deletion	Chromosome 15q13.3 microdeletion syndrome [RCV002280355]	Chr15:30626003..32111997 [GRCh38] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3389C>T (p.Pro1130Leu)	single nucleotide variant	not provided [RCV002042651]	Chr15:31027022 [GRCh38] Chr15:31319225 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3506T>G (p.Leu1169Arg)	single nucleotide variant	not provided [RCV001210952]	Chr15:31026262 [GRCh38] Chr15:31318465 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3567C>G (p.Phe1189Leu)	single nucleotide variant	Inborn genetic diseases [RCV002538436]\|not provided [RCV001294401]	Chr15:31026201 [GRCh38] Chr15:31318404 [GRCh37] Chr15:15q13.3	likely benign\|uncertain significance
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)	deletion	Congenital stationary night blindness 1C [RCV001542687]\|not provided [RCV000176649]	Chr15:31026197 [GRCh38] Chr15:31318400 [GRCh37] Chr15:15q13.3	pathogenic\|likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1	copy number loss	See cases [RCV000052453]	Chr15:30592358..32121422 [GRCh38] Chr15:30884561..32413623 [GRCh37] Chr15:28671853..30200915 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1	copy number loss	See cases [RCV000052464]	Chr15:30750713..32217725 [GRCh38] Chr15:31042916..32509926 [GRCh37] Chr15:28830208..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3564C>T (p.His1188=)	single nucleotide variant	not provided [RCV002600479]	Chr15:31026204 [GRCh38] Chr15:31318407 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1	copy number loss	See cases [RCV000052481]	Chr15:30822844..32606466 [GRCh38] Chr15:31115047..32898667 [GRCh37] Chr15:28902339..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3495G>A (p.Leu1165=)	single nucleotide variant	TRPM1-related disorder [RCV004753232]\|not provided [RCV001208677]	Chr15:31026916 [GRCh38] Chr15:31319119 [GRCh37] Chr15:15q13.3	likely benign\|uncertain significance
NM_001252024.2(TRPM1):c.3339G>A (p.Lys1113=)	single nucleotide variant	not provided [RCV002622526]	Chr15:31027072 [GRCh38] Chr15:31319275 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3607C>A (p.Arg1203Ser)	single nucleotide variant	not provided [RCV000488117]	Chr15:31026161 [GRCh38] Chr15:31318364 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	copy number loss	See cases [RCV000050564]	Chr15:28314197..32343758 [GRCh38] Chr15:28579796..32635959 [GRCh37] Chr15:26232938..30423251 [NCBI36] Chr15:15q13.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	copy number loss	See cases [RCV000050599]	Chr15:30527262..32217725 [GRCh38] Chr15:30819465..32509926 [GRCh37] Chr15:28606757..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1	copy number loss	See cases [RCV000050376]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NC_000015.10:g.(?_30568981)_(32318632_?)del	deletion	Autism [RCV000754165]	Chr15:30568981..32318632 [GRCh38] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1	copy number loss	See cases [RCV000050609]	Chr15:30662523..32607357 [GRCh38] Chr15:30954726..32899558 [GRCh37] Chr15:28742018..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3531G>A (p.Leu1177=)	single nucleotide variant	not provided [RCV002168746]	Chr15:31026237 [GRCh38] Chr15:31318440 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	copy number gain	See cases [RCV000050899]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
NM_001252024.2(TRPM1):c.3629+15C>G	single nucleotide variant	not provided [RCV002197091]	Chr15:31026124 [GRCh38] Chr15:31318327 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1	copy number loss	See cases [RCV000050511]	Chr15:30438310..32217725 [GRCh38] Chr15:30730513..32509926 [GRCh37] Chr15:28517805..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NC_000015.10:g.31026261_31026273del	deletion	not provided [RCV002611382]	Chr15:31026259..31026271 [GRCh38] Chr15:31318462..31318474 [GRCh37] Chr15:15q13.3	pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	copy number gain	See cases [RCV000052340]	Chr15:20002460..32121422 [GRCh38] Chr15:20207713..32413623 [GRCh37] Chr15:18467727..30200915 [NCBI36] Chr15:15q11.1-13.3	pathogenic
NM_001252024.2(TRPM1):c.3416del (p.Ile1139fs)	deletion	not provided [RCV001994519]	Chr15:31026995 [GRCh38] Chr15:31319198 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile)	single nucleotide variant	Congenital stationary night blindness 1C [RCV000505638]\|Inborn genetic diseases [RCV002524422]\|not provided [RCV001061369]	Chr15:31027001 [GRCh38] Chr15:31319204 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3580G>T (p.Asp1194Tyr)	single nucleotide variant	not provided [RCV002047456]	Chr15:31026188 [GRCh38] Chr15:31318391 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	copy number loss	See cases [RCV000052426]	Chr15:30109224..32606466 [GRCh38] Chr15:30401427..32898667 [GRCh37] Chr15:28188719..30685959 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1	copy number loss	See cases [RCV000052431]	Chr15:30361674..32326182 [GRCh38] Chr15:30653877..32618383 [GRCh37] Chr15:28441169..30405675 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3487C>T (p.Arg1163Cys)	single nucleotide variant	Inborn genetic diseases [RCV004970741]\|not provided [RCV001996162]	Chr15:31026924 [GRCh38] Chr15:31319127 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3519G>A (p.Glu1173=)	single nucleotide variant	not provided [RCV002078080]	Chr15:31026249 [GRCh38] Chr15:31318452 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3463_3464del (p.Glu1155fs)	microsatellite	not provided [RCV002014673]	Chr15:31026947..31026948 [GRCh38] Chr15:31319150..31319151 [GRCh37] Chr15:15q13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	copy number loss	See cases [RCV000137266]	Chr15:30361674..32621998 [GRCh38] Chr15:30653877..32914199 [GRCh37] Chr15:28441169..30701491 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3629+19C>G	single nucleotide variant	not provided [RCV002131539]	Chr15:31026120 [GRCh38] Chr15:31318323 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3385C>T (p.Leu1129=)	single nucleotide variant	not provided [RCV002123765]	Chr15:31027026 [GRCh38] Chr15:31319229 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3496+2T>C	single nucleotide variant	Congenital stationary night blindness 1C [RCV001783914]	Chr15:31026913 [GRCh38] Chr15:31319116 [GRCh37] Chr15:15q13.3	likely pathogenic
NM_001252024.2(TRPM1):c.3416T>G (p.Ile1139Ser)	single nucleotide variant	not provided [RCV001042313]	Chr15:31026995 [GRCh38] Chr15:31319198 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3629+11C>T	single nucleotide variant	not provided [RCV002164415]	Chr15:31026128 [GRCh38] Chr15:31318331 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3570G>A (p.Arg1190=)	single nucleotide variant	not provided [RCV002168600]	Chr15:31026198 [GRCh38] Chr15:31318401 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3629+19C>T	single nucleotide variant	not provided [RCV002128517]	Chr15:31026120 [GRCh38] Chr15:31318323 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3614G>A (p.Arg1205Gln)	single nucleotide variant	not provided [RCV001916673]	Chr15:31026154 [GRCh38] Chr15:31318357 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs)	deletion	Congenital stationary night blindness 1C [RCV000778426]	Chr15:31026178 [GRCh38] Chr15:31318381 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3581A>G (p.Asp1194Gly)	single nucleotide variant	not provided [RCV001863956]	Chr15:31026187 [GRCh38] Chr15:31318390 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1	copy number loss	See cases [RCV000052433]	Chr15:30361674..32222779 [GRCh38] Chr15:30653877..32514980 [GRCh37] Chr15:28441169..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3461G>C (p.Arg1154Thr)	single nucleotide variant	not provided [RCV001864621]	Chr15:31026950 [GRCh38] Chr15:31319153 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3354G>C (p.Gln1118His)	single nucleotide variant	not provided [RCV001892140]	Chr15:31027057 [GRCh38] Chr15:31319260 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3429T>C (p.Ile1143=)	single nucleotide variant	not provided [RCV002154221]	Chr15:31026982 [GRCh38] Chr15:31319185 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3469dup (p.Asp1157fs)	duplication	not provided [RCV002605327]	Chr15:31026941..31026942 [GRCh38] Chr15:31319144..31319145 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3606G>T (p.Glu1202Asp)	single nucleotide variant	not provided [RCV000487599]	Chr15:31026162 [GRCh38] Chr15:31318365 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3485A>G (p.Asp1162Gly)	single nucleotide variant	not provided [RCV001911908]	Chr15:31026926 [GRCh38] Chr15:31319129 [GRCh37] Chr15:15q13.3	uncertain significance
Single allele	duplication	Schizophrenia [RCV000754162]	Chr15:30506022..32161746 [GRCh38] Chr15:15q13.2-13.3	likely pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3	copy number gain	See cases [RCV000135452]	Chr15:30438310..32607357 [GRCh38] Chr15:30730513..32899558 [GRCh37] Chr15:28517805..30686850 [NCBI36] Chr15:15q13.2-13.3	conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3	copy number gain	See cases [RCV000134822]	Chr15:30662521..32217731 [GRCh38] Chr15:30954724..32509932 [GRCh37] Chr15:28742016..30297224 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3	copy number gain	See cases [RCV000135974]	Chr15:30361656..32150923 [GRCh38] Chr15:30653859..32443124 [GRCh37] Chr15:28441151..30230416 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1	copy number loss	See cases [RCV000050900]	Chr15:30361674..32607357 [GRCh38] Chr15:30653877..32899558 [GRCh37] Chr15:28441169..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)	single nucleotide variant	Congenital stationary night blindness 1C [RCV000345455]\|TRPM1-related disorder [RCV003940226]\|not provided [RCV001458374]	Chr15:31026144 [GRCh38] Chr15:31318347 [GRCh37] Chr15:15q13.3	likely benign\|uncertain significance
Single allele	duplication	Autism [RCV000754147]	Chr15:22420897..32130343 [GRCh38] Chr15:15q11.2-13.3	pathogenic
NC_000015.10:g.(?_30325774)_(32194551_?)del	deletion	Schizophrenia [RCV000754161]	Chr15:30325774..32194551 [GRCh38] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3593C>A (p.Ser1198Ter)	single nucleotide variant	not provided [RCV001324306]	Chr15:31026175 [GRCh38] Chr15:31318378 [GRCh37] Chr15:15q13.3	likely pathogenic\|uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3	copy number gain	See cases [RCV000140689]	Chr15:30527262..32222779 [GRCh38] Chr15:30819465..32514980 [GRCh37] Chr15:28606757..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3	copy number gain	See cases [RCV000140616]	Chr15:30969632..31317417 [GRCh38] Chr15:31261835..31609620 [GRCh37] Chr15:29049127..29396912 [NCBI36] Chr15:15q13.3	benign
NM_001252024.2(TRPM1):c.3540C>G (p.Phe1180Leu)	single nucleotide variant	not provided [RCV001350570]	Chr15:31026228 [GRCh38] Chr15:31318431 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3613C>T (p.Arg1205Trp)	single nucleotide variant	Retinal dystrophy [RCV004815482]\|not provided [RCV001369917]	Chr15:31026155 [GRCh38] Chr15:31318358 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1	copy number loss	See cases [RCV000141477]	Chr15:30217122..32217725 [GRCh38] Chr15:30509325..32509926 [GRCh37] Chr15:28296617..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3362T>A (p.Met1121Lys)	single nucleotide variant	not provided [RCV001366103]	Chr15:31027049 [GRCh38] Chr15:31319252 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1	copy number loss	See cases [RCV000141147]	Chr15:30797731..32170441 [GRCh38] Chr15:31089934..32462642 [GRCh37] Chr15:28877226..30249934 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1	copy number loss	See cases [RCV000139322]	Chr15:30662521..32150923 [GRCh38] Chr15:30954724..32443124 [GRCh37] Chr15:28742016..30230416 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3	copy number gain	See cases [RCV000136965]	Chr15:30291263..32217725 [GRCh38] Chr15:30583466..32509926 [GRCh37] Chr15:28370758..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1	copy number loss	See cases [RCV000141482]	Chr15:30217122..32607357 [GRCh38] Chr15:30509325..32899558 [GRCh37] Chr15:28296617..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1	copy number loss	See cases [RCV000134823]	Chr15:30662521..32217731 [GRCh38] Chr15:30954724..32509932 [GRCh37] Chr15:28742016..30297224 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	copy number loss	See cases [RCV000135953]	Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14	pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	copy number gain	See cases [RCV000140623]	Chr15:19840581..32621939 [GRCh38] Chr15:20045834..32914140 [GRCh37] Chr15:18305848..30701432 [NCBI36] Chr15:15q11.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1	copy number loss	See cases [RCV000140690]	Chr15:30527262..32222779 [GRCh38] Chr15:30819465..32514980 [GRCh37] Chr15:28606757..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	copy number loss	See cases [RCV000138247]	Chr15:30629714..32621998 [GRCh38] Chr15:30921917..32914199 [GRCh37] Chr15:28709209..30701491 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3	copy number gain	See cases [RCV000137254]	Chr15:30361674..32414682 [GRCh38] Chr15:30653877..32706883 [GRCh37] Chr15:28441169..30494175 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	copy number gain	See cases [RCV000138268]	Chr15:28730988..32275124 [GRCh38] Chr15:28976134..32567325 [GRCh37] Chr15:26775175..30354617 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	copy number gain	See cases [RCV000138283]	Chr15:28744504..32275124 [GRCh38] Chr15:28989650..32567325 [GRCh37] Chr15:26788691..30354617 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	copy number gain	See cases [RCV000139610]	Chr15:23319714..32217731 [GRCh38] Chr15:22765637..32509932 [GRCh37] Chr15:20317001..30297224 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3	copy number gain	See cases [RCV000141654]	Chr15:30094195..32151843 [GRCh38] Chr15:30386398..32444044 [GRCh37] Chr15:28173690..30231336 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1	copy number loss	See cases [RCV000139178]	Chr15:30629714..32247465 [GRCh38] Chr15:30921917..32539666 [GRCh37] Chr15:28709209..30326958 [NCBI36] Chr15:15q13.2-13.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1	copy number loss	See cases [RCV000139327]	Chr15:30662521..32569411 [GRCh38] Chr15:30954724..32861612 [GRCh37] Chr15:28742016..30648904 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	copy number gain	See cases [RCV000138530]	Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	copy number gain	See cases [RCV000050375]	Chr15:30438310..32569425 [GRCh38] Chr15:30730513..32861626 [GRCh37] Chr15:28517805..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	copy number gain	See cases [RCV000050441]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3	copy number gain	See cases [RCV000135725]	Chr15:30361674..32222779 [GRCh38] Chr15:30653877..32514980 [GRCh37] Chr15:28441169..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3	copy number gain	See cases [RCV000137535]	Chr15:30629714..32326182 [GRCh38] Chr15:30921917..32618383 [GRCh37] Chr15:28709209..30405675 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3	copy number gain	See cases [RCV000139101]	Chr15:23319714..31175232 [GRCh38] Chr15:22765637..31467435 [GRCh37] Chr15:20317001..29254727 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	copy number loss	See cases [RCV000050442]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	copy number loss	See cases [RCV000139417]	Chr15:28744504..32222779 [GRCh38] Chr15:28989650..32514980 [GRCh37] Chr15:26788691..30302272 [NCBI36] Chr15:15q13.1-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3	copy number gain	See cases [RCV000137855]	Chr15:30527262..32621998 [GRCh38] Chr15:30819465..32914199 [GRCh37] Chr15:28606757..30701491 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	copy number gain	See cases [RCV000138622]	Chr15:23319714..32607357 [GRCh38] Chr15:22765637..32899558 [GRCh37] Chr15:20317001..30686850 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1	copy number loss	See cases [RCV000135446]	Chr15:30750713..32607357 [GRCh38] Chr15:31042916..32899558 [GRCh37] Chr15:28830208..30686850 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	copy number gain	See cases [RCV000133742]	Chr15:28961114..32343758 [GRCh38] Chr15:29253317..32635959 [GRCh37] Chr15:27040609..30423251 [NCBI36] Chr15:15q13.1-13.3	uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	copy number loss	See cases [RCV000138308]	Chr15:23319714..32384654 [GRCh38] Chr15:22765628..32676855 [GRCh37] Chr15:20316992..30464147 [NCBI36] Chr15:15q11.2-13.1	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-31045307)x1	copy number loss	See cases [RCV000139471]	Chr15:30629714..31045307 [GRCh38] Chr15:30921917..31337510 [GRCh37] Chr15:28709209..29124802 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3	copy number gain	See cases [RCV000139177]	Chr15:30629714..32247465 [GRCh38] Chr15:30921917..32539666 [GRCh37] Chr15:28709209..30326958 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3	copy number gain	See cases [RCV000135330]	Chr15:30797731..32150818 [GRCh38] Chr15:31089934..32443019 [GRCh37] Chr15:28877226..30230311 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3	copy number gain	See cases [RCV000135791]	Chr15:30361674..31572487 [GRCh38] Chr15:30653877..31864690 [GRCh37] Chr15:28441169..29651982 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3413A>G (p.His1138Arg)	single nucleotide variant	not provided [RCV002908330]	Chr15:31026998 [GRCh38] Chr15:31319201 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3601G>A (p.Asp1201Asn)	single nucleotide variant	not provided [RCV002979387]	Chr15:31026167 [GRCh38] Chr15:31318370 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3396G>A (p.Pro1132=)	single nucleotide variant	not provided [RCV001465105]	Chr15:31027015 [GRCh38] Chr15:31319218 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3543G>C (p.Glu1181Asp)	single nucleotide variant	not provided [RCV003022594]	Chr15:31026225 [GRCh38] Chr15:31318428 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3629+9A>G	single nucleotide variant	not provided [RCV001420085]	Chr15:31026130 [GRCh38] Chr15:31318333 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3602_3606del (p.Asp1201fs)	deletion	not provided [RCV003041300]	Chr15:31026162..31026166 [GRCh38] Chr15:31318365..31318369 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3558G>A (p.Gln1186=)	single nucleotide variant	not provided [RCV001434758]	Chr15:31026210 [GRCh38] Chr15:31318413 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3	copy number gain	See cases [RCV000142809]	Chr15:30629714..32222779 [GRCh38] Chr15:30921917..32514980 [GRCh37] Chr15:28709209..30302272 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3	copy number gain	See cases [RCV000142184]	Chr15:30621371..32147323 [GRCh38] Chr15:30913574..32439524 [GRCh37] Chr15:28700866..30226816 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	copy number loss	See cases [RCV000143205]	Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14	pathogenic
NM_001252024.2(TRPM1):c.3496+1G>A	single nucleotide variant	not provided [RCV003007935]	Chr15:31026914 [GRCh38] Chr15:31319117 [GRCh37] Chr15:15q13.3	likely pathogenic
NM_001252024.2(TRPM1):c.3487C>G (p.Arg1163Gly)	single nucleotide variant	not provided [RCV002914739]	Chr15:31026924 [GRCh38] Chr15:31319127 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1	copy number loss	See cases [RCV000143262]	Chr15:30629714..32275124 [GRCh38] Chr15:30921917..32567325 [GRCh37] Chr15:28709209..30354617 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3	copy number gain	See cases [RCV000142144]	Chr15:30621371..32151912 [GRCh38] Chr15:30913574..32444113 [GRCh37] Chr15:28700866..30231405 [NCBI36] Chr15:15q13.2-13.3	uncertain significance
NM_001252024.2(TRPM1):c.3549G>A (p.Gln1183=)	single nucleotide variant	not provided [RCV001406652]	Chr15:31026219 [GRCh38] Chr15:31318422 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	copy number gain	Anomalous pulmonary venous return [RCV003223577]	Chr15:30866083..32146743 [GRCh38] Chr15:15q13.2-13.3	uncertain significance
NM_001252024.2(TRPM1):c.3556C>T (p.Gln1186Ter)	single nucleotide variant	not provided [RCV003042503]	Chr15:31026212 [GRCh38] Chr15:31318415 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3481C>T (p.Arg1161Trp)	single nucleotide variant	not provided [RCV003044280]	Chr15:31026930 [GRCh38] Chr15:31319133 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3370C>A (p.His1124Asn)	single nucleotide variant	Inborn genetic diseases [RCV002910386]	Chr15:31027041 [GRCh38] Chr15:31319244 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	copy number gain	See cases [RCV000143653]	Chr15:23328044..32151843 [GRCh38] Chr15:23282829..32444044 [GRCh37] Chr15:20834270..30231336 [NCBI36] Chr15:15q11.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3497-10C>T	single nucleotide variant	not provided [RCV001400836]	Chr15:31026281 [GRCh38] Chr15:31318484 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3615G>C (p.Arg1205=)	single nucleotide variant	not provided [RCV001404888]	Chr15:31026153 [GRCh38] Chr15:31318356 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1	copy number loss	See cases [RCV000142300]	Chr15:30781532..32154629 [GRCh38] Chr15:31073735..32446830 [GRCh37] Chr15:28861027..30234122 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3	copy number gain	See cases [RCV000142792]	Chr15:30629714..32569425 [GRCh38] Chr15:30921917..32861626 [GRCh37] Chr15:28709209..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3569_3570delinsTT (p.Arg1190Leu)	indel	not provided [RCV003047716]	Chr15:31026198..31026199 [GRCh38] Chr15:31318401..31318402 [GRCh37] Chr15:15q13.3	uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1	copy number loss	See cases [RCV000142808]	Chr15:30629714..32222779 [GRCh38] Chr15:30921917..32514980 [GRCh37] Chr15:28709209..30302272 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1	copy number loss	See cases [RCV000143747]	Chr15:30781465..32154629 [GRCh38] Chr15:31073668..32446830 [GRCh37] Chr15:28860960..30234122 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3	copy number gain	See cases [RCV000142669]	Chr15:30361674..32569425 [GRCh38] Chr15:30653877..32861626 [GRCh37] Chr15:28441169..30648918 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	copy number loss	See cases [RCV000148065]	Chr15:30527262..32217725 [GRCh38] Chr15:30819465..32509926 [GRCh37] Chr15:28606757..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	copy number loss	See cases [RCV000148066]	Chr15:30662523..32217725 [GRCh38] Chr15:30954726..32509926 [GRCh37] Chr15:28742018..30297218 [NCBI36] Chr15:15q13.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3510C>T (p.Ser1170=)	single nucleotide variant	not provided [RCV001459124]	Chr15:31026258 [GRCh38] Chr15:31318461 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3	copy number gain	See cases [RCV000143499]	Chr15:30781466..32154629 [GRCh38] Chr15:31073669..32446830 [GRCh37] Chr15:28860961..30234122 [NCBI36] Chr15:15q13.2-13.3	uncertain significance\|conflicting data from submitters
NM_001252024.2(TRPM1):c.3496+11G>C	single nucleotide variant	not provided [RCV005170423]	Chr15:31026904 [GRCh38] Chr15:31319107 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3585G>A (p.Glu1195=)	single nucleotide variant	not provided [RCV003850437]	Chr15:31026183 [GRCh38] Chr15:31318386 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3556dup (p.Gln1186fs)	duplication	not provided [RCV003706125]	Chr15:31026211..31026212 [GRCh38] Chr15:31318414..31318415 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3534T>C (p.His1178=)	single nucleotide variant	not provided [RCV003682768]	Chr15:31026234 [GRCh38] Chr15:31318437 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	copy number gain	15q11q13 microduplication syndrome [RCV003985066]	Chr15:22612582..32116118 [GRCh38] Chr15:15q11.2-13.3	pathogenic
NM_001252024.2(TRPM1):c.3431T>G (p.Met1144Arg)	single nucleotide variant	Inborn genetic diseases [RCV004468644]	Chr15:31026980 [GRCh38] Chr15:31319183 [GRCh37] Chr15:15q13.3	uncertain significance
NM_001252024.2(TRPM1):c.3572del (p.Glu1191fs)	deletion	Congenital stationary night blindness 1C [RCV004765453]	Chr15:31026196 [GRCh38] Chr15:31318399 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3496_3496+1del	deletion	Congenital stationary night blindness 1C [RCV004765452]	Chr15:31026914..31026915 [GRCh38] Chr15:31319117..31319118 [GRCh37] Chr15:15q13.3	pathogenic
NM_001252024.2(TRPM1):c.3629+14C>A	single nucleotide variant	not provided [RCV005070249]	Chr15:31026125 [GRCh38] Chr15:31318328 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3528G>A (p.Arg1176=)	single nucleotide variant	not provided [RCV005157108]	Chr15:31026240 [GRCh38] Chr15:31318443 [GRCh37] Chr15:15q13.3	likely benign
NM_001252024.2(TRPM1):c.3497-27_3497-17dup	duplication	not provided [RCV005083902]	Chr15:31026287..31026288 [GRCh38] Chr15:31318490..31318491 [GRCh37] Chr15:15q13.3	likely benign
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1	copy number loss	See cases [RCV000136622]	Chr15:30361674..32569425 [GRCh38] Chr15:30653877..32861626 [GRCh37] Chr15:28441169..30648918 [NCBI36] Chr15:15q13.2-13.3	pathogenic

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2289410	BW327_H	Body weight QTL 327 (human)	3.32	0.0001	Body fat amount		15	19980129	45980129	Human
1643273	BW330_H	Body Weight QTL 330 (human)	1.05	0.014	Body weight	body mass index	15	26866719	52866719	Human
2289430	BMD7_H	Bone mineral density QTL 7 (human)	3.32	0.0001	Bone mineral density		15	19980129	45980129	Human
1559411	SCL107_H	Serum cholesterol level QTL 107 (human)	3.88		Lipid level	triglyceride	15	26543552	52543552	Human
1643523	BW284_H	Body Weight QTL 284 (human)	1.95	0.0013	Body weight		15	21792889	47792889	Human
2289420	BW314_H	Body weight QTL 314 (human)	2.72	0.0003	Body weight	lean mass	15	19980129	45980129	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NG_086586	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC009562	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC243758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC126862088	COSMIC
GTEx	LOC126862088	GTEx
Human Proteome Map	LOC126862088	Human Proteome Map
NCBI Gene	LOC126862088	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

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